Fabry disease and incidence of cancer
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588622/ https://www.ncbi.nlm.nih.gov/pubmed/28877708 http://dx.doi.org/10.1186/s13023-017-0701-6 |
_version_ | 1783262210985820160 |
---|---|
author | Bird, Sarah Hadjimichael, Efthymios Mehta, Atul Ramaswami, Uma Hughes, Derralynn |
author_facet | Bird, Sarah Hadjimichael, Efthymios Mehta, Atul Ramaswami, Uma Hughes, Derralynn |
author_sort | Bird, Sarah |
collection | PubMed |
description | BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kidneys, heart and brain. There is growing evidence that alterations in glycosphingolipids may have an oncogenic role and this prompted a review of cases of cancer and benign lesions in a large single centre cohort of Fabry patients. We also explored whether there is a difference in the risk of cancer in Fabry patients compared to the general population. RESULTS: Our results suggest that Fabry patients may have a marginally reduced rate of all cancer (incidence rate ratio 0.61, 95% confidence interval 0.37 to 0.99) but possibly increased rates of melanoma, urological malignancies and meningiomas. CONCLUSION: Greater knowledge and awareness of cancer in patients with Fabry disease may help identify at-risk individuals and elucidate cancer mechanisms in this rare inherited disease, which may potentially be relevant to the wider cancer population. |
format | Online Article Text |
id | pubmed-5588622 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-55886222017-09-14 Fabry disease and incidence of cancer Bird, Sarah Hadjimichael, Efthymios Mehta, Atul Ramaswami, Uma Hughes, Derralynn Orphanet J Rare Dis Research BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kidneys, heart and brain. There is growing evidence that alterations in glycosphingolipids may have an oncogenic role and this prompted a review of cases of cancer and benign lesions in a large single centre cohort of Fabry patients. We also explored whether there is a difference in the risk of cancer in Fabry patients compared to the general population. RESULTS: Our results suggest that Fabry patients may have a marginally reduced rate of all cancer (incidence rate ratio 0.61, 95% confidence interval 0.37 to 0.99) but possibly increased rates of melanoma, urological malignancies and meningiomas. CONCLUSION: Greater knowledge and awareness of cancer in patients with Fabry disease may help identify at-risk individuals and elucidate cancer mechanisms in this rare inherited disease, which may potentially be relevant to the wider cancer population. BioMed Central 2017-09-06 /pmc/articles/PMC5588622/ /pubmed/28877708 http://dx.doi.org/10.1186/s13023-017-0701-6 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Bird, Sarah Hadjimichael, Efthymios Mehta, Atul Ramaswami, Uma Hughes, Derralynn Fabry disease and incidence of cancer |
title | Fabry disease and incidence of cancer |
title_full | Fabry disease and incidence of cancer |
title_fullStr | Fabry disease and incidence of cancer |
title_full_unstemmed | Fabry disease and incidence of cancer |
title_short | Fabry disease and incidence of cancer |
title_sort | fabry disease and incidence of cancer |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588622/ https://www.ncbi.nlm.nih.gov/pubmed/28877708 http://dx.doi.org/10.1186/s13023-017-0701-6 |
work_keys_str_mv | AT birdsarah fabrydiseaseandincidenceofcancer AT hadjimichaelefthymios fabrydiseaseandincidenceofcancer AT mehtaatul fabrydiseaseandincidenceofcancer AT ramaswamiuma fabrydiseaseandincidenceofcancer AT hughesderralynn fabrydiseaseandincidenceofcancer |